1. AP Biology 2006-2007 Beyond Mendel’s Laws of Inheritance

2. AP Biology Extending Mendelian genetics  Mendel worked with a simple system  peas are genetically simple  most traits are controlled by a single gene  each gene has only 2 alleles, 1 of which is completely dominant to the other  The relationship between genotype & phenotype is rarely that simple

3. AP Biology _____________________________  Heterozygote shows an intermediate, blended phenotype  example:  RR = red flowers  rr = white flowers  Rr = pink flowers  make 50% less color RR  _______ WWRW

4. AP Biology Incomplete dominance true-breeding red flowers true-breeding white flowers X P 100% 100% pink flowers F 1 generation (hybrids) self-pollinate 25% white F 2 generation 25% red 1:2:1 50% pink

5. AP Biology  2 alleles affect the phenotype equally & separately  not blended phenotype  human ABO blood groups  3 alleles  I A, I B, i  I A & I B alleles are co-dominant  glycoprotein antigens on RBC  I A I B = both antigens are produced  i allele recessive to both _____________________________

6. AP Biology Genetics of Blood type pheno- type genotype antigen on RBC antibodies in blood donation status AI A I A or I A i _______________ on surface of RBC __ BI B I B or I B i _______________ on surface of RBC __ ABI A I B _______________ _______________ on surface of RBC universal recipient Oi ii i _______________ on surface of RBC universal donor

7. AP Biology _____________________________  Most genes are pleiotropic  one gene affects more than one phenotypic character  1 gene affects more than 1 trait  dwarfism (achondroplasia)  gigantism (acromegaly)

8. AP Biology Acromegaly: André the Giant

9. AP Biology Aa x aa Inheritance pattern of Achondroplasia aa A a Aa A a Aa x Aa 50% dwarf:50% normal or 1:167% dwarf:33% normal or 2:1 lethaldwarf normal

10. AP Biology _____________________________ B_C_ bbC_ _ _cc How would you know that difference wasn ’ t random chance? Chi-square test!  One gene completely masks another gene  coat color in mice = 2 separate genes  C,c: pigment (C) or no pigment (c)  B,b: more pigment (black=B) or less (brown=b)  cc = albino, no matter B allele  9:3:3:1 becomes 9:3:4

11. AP Biology Epistasis in Labrador retrievers  2 genes: (E,e) & (B,b)  pigment (E) or no pigment (e)  pigment concentration: black (B) to brown (b) E–B–E–bbeeB–eebb

12. AP Biology _____________________________  Some phenotypes determined by additive effects of 2 or more genes on a single character  phenotypes on a continuum  human traits  skin color  height  weight  eye color  intelligence  behaviors

13. AP Biology enzyme Skin color: Albinism Johnny & Edgar Winter albino Africans  However albinism can be inherited as a single gene trait  aa = albino melanin = universal brown color tyrosine melanin albinism

14. AP Biology OCA1 albinoBianca Knowlton

15. AP Biology _____________________________  Genes are on sex chromosomes  as opposed to autosomal chromosomes  first discovered by T.H. Morgan at Columbia U.  Drosophila breeding  good genetic subject  prolific  2 week generations  4 pairs of chromosomes  XX=female, XY=male 1910 | 1933

16. AP Biology autosomal chromosomes sex chromosomes Classes of chromosomes

17. AP Biology F 2 generation 100% red-eye female 50% red-eye male 50% white eye male Discovery of sex linkage P X F 1 generation (hybrids) 100% red eye offspring true-breeding white-eye male true-breeding red-eye female

18. AP Biology RRrr What’s up with Morgan’s flies? x rr R R Rr 100% red eyes Rr x Rr R r RR Rrrr Rr 3 red : 1 white  Doesn’t work that way!

19. AP Biology  In humans & other mammals, there are 2 sex chromosomes: X & Y  2 X chromosomes  develop as a female: XX  gene redundancy, like autosomal chromosomes  an X & Y chromosome  develop as a male: XY  no redundancy Genetics of Sex XY X X XX XY 50% female : 50% male XX

20. AP Biology XRXRXRXR XrYXrY What’s up with Morgan’s flies? x XrXr Y XRXR 100% red eyes XRXR x  XRXrXRXr XRYXRY XRXR Y XRXR XrXr 100% red females 50% red males; 50% white males BINGO!

21. AP Biology Genes on sex chromosomes  Y chromosome  few genes other than SRY( sex-determining region Y)  sex-determining region  master regulator for maleness  turns on genes for production of male hormones  many effects = pleiotropy!  X chromosome  other genes/traits beyond sex determination  mutations:  hemophilia  Duchenne muscular dystrophy  color-blindness

22. AP Biology  Sex-linked  usually means “__________”  more than 60 diseases traced to genes on X chromosome Human X chromosome

23. AP Biology Map of Human Y chromosome? < 30 genes on Y chromosome Sex-determining Region Y ( SRY ) Channel Flipping ( FLP ) Catching & Throwing ( BLZ-1) Self confidence ( BLZ-2) note: not linked to ability gene Devotion to sports ( BUD-E) Addiction to death & destruction movies ( SAW-2) Scratching ( ITCH-E) Spitting ( P2E) linked Inability to express affection over phone ( ME-2) Selective hearing loss ( HUH) Total lack of recall for dates ( OOPS) Air guitar ( RIF)

24. AP Biology

26. Hemophilia Hh x HH XHYXHY XHXhXHXh XHXhXHXh XHYXHY sex-linked recessive XHXH Y male / sperm XHXH XhXh female / eggs carrierdisease

27. AP Biology ____________________________  Female mammals inherit 2 X chromosomes  one X becomes inactivated during embryonic development  condenses into compact object = Barr body  which X becomes Barr body is random  patchwork trait = “mosaic” XHXH XhXh XHXhXHXh

28. AP Biology Male pattern baldness  Sex influenced trait  autosomal trait influenced by sex hormones  age effect as well = onset after 30 years old  dominant in males & recessive in females  B_ = bald in males; bb = bald in females

29. AP Biology Nature vs. nurture  Phenotype is controlled by both environment & genes Color of Hydrangea flowers is influenced by soil pH Human skin color is influenced by both genetics & environmental conditions Coat color in arctic fox influenced by heat sensitive alleles

30. AP Biology 2006-2007 Any Questions?